A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469573



Internal ID15534288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47434216..47621576hg38UCSC Ensembl
Innerchr17:45511582..45698942hg19UCSC Ensembl
Innerchr17:42866581..43053941hg18UCSC Ensembl
Innerchr17:45986220..46173580hg16UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38187361
hg19187361
hg18187361
hg16187361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676494, nssv1673724, nssv1676556, nssv1675055, nssv1672230, nssv1673791, nssv1672499, nssv1673344, nssv1672676, nssv1675824, nssv1674951, nssv1676659, nssv1672062, nssv1673010, nssv1674488, nssv1673556, nssv1676193, nssv1676013, nssv1675122, nssv1676301, nssv1672081, nssv1672811, nssv1672290, nssv1675268, nssv1673470, nssv1672116, nssv1676195, nssv1675287, nssv1675485, nssv1673936, nssv1676576
Samples
Known GenesEFCAB13, MRPL45P2, NPEPPS
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469573
Frequency
Sample Size265
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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